Sign Up to like & get
recommendations!
1
Published in 2019 at "Journal of Neurology"
DOI: 10.1007/s00415-019-09574-9
Abstract: Adolescent-onset spastic ataxia is a proposed novel phenotype in compound heterozygous carriers of an intronic mutation (c.1909ā+ā22Gā>āA) in the POLR3A gene. Here, we present ten new cases of POLR3A-related spastic ataxia and discuss the genetic,…
read more here.
Keywords:
new mutations;
spastic ataxia;
polr3a related;
ataxia new ... See more keywords